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MGP004283

UniProt Annotations

Entry Information
Gene Name1-acylglycerol-3-phosphate O-acyltransferase 2
Protein EntryPLCB_HUMAN
UniProt IDO15120
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15120-1; Sequence=Displayed; Name=2; IsoId=O15120-2; Sequence=VSP_005071; Note=No experimental confirmation available.;
Catalytic ActivityAcyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate. {ECO:0000269|PubMed:15629135, ECO:0000269|PubMed:21873652, ECO:0000269|PubMed:9242711}.
DiseaseCongenital generalized lipodystrophy 1 (CGL1) [MIM:608594]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269|PubMed:11967537}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate. {ECO:0000250}.
FunctionConverts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. {ECO:0000269|PubMed:15629135, ECO:0000269|PubMed:21873652, ECO:0000269|PubMed:9242711}.
PathwayPhospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.
SimilarityBelongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:21873652}; Multi-pass membrane protein {ECO:0000269|PubMed:21873652}.
Tissue SpecificityExpressed predominantly in adipose tissue, pancreas and liver. {ECO:0000269|PubMed:21873652}.
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